P261L (p.Pro261Leu) variant of CACNA2D2 (Q9NY47)
P261L (p.Pro261Leu) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Developmental and epileptic encephalopathy; Inborn genetic diseas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
P261L (p.Pro261Leu) variant details
- p.Pro261Leu
- rs1211603072
- ClinGen CA352939391
- cosmic curated COSV56563
- ClinVar RCV000636384
- Uncertain significance
- not specified; Developmental and epileptic encephalopathy; Inborn genetic diseas
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.66
- MetaLR 0.46
- MetaSVM 0.08
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Developmental and epileptic encephalopathy; Inbor)
- EBI: Pathogenic (in CASVDD)
- UniProt: Pathogenic (in CASVDD)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants. (PMID 30410802)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)