P31L (p.Pro31Leu) variant of CACNA1E (Q15878)
P31L (p.Pro31Leu) in CACNA1E (Q15878) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- rs780719691
- ClinGen CA1274822
- cosmic curated COSV62398
- ClinVar RCV001955826
- Benign/Likely benign
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.29
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Benign/Likely benign (not provided; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)