A63V (p.Ala63Val) variant of LRP2 (P98164)
A63V (p.Ala63Val) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Donnai-Barrow syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A63V (p.Ala63Val) variant details
- p.Ala63Val
- rs150829296
- ClinGen CA1955957
- cosmic curated COSV55563
- ClinVar RCV002038455
- Uncertain significance
- Inborn genetic diseases; not provided; Donnai-Barrow syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 22.80
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Donnai-Barrow syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Donnai-Barrow Syndrome. (PMID 20301732)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)