A50V (p.Ala50Val) variant of CSRP3 (P50461)
A50V (p.Ala50Val) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype; Hypertrophic cardiomyopathy 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- rs139805841
- ClinGen CA5916639
- ClinVar RCV001233724
- ClinVar RCV002393586
- Uncertain significance
- not provided; Cardiovascular phenotype; Hypertrophic cardiomyopathy 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.67
- CADD 24.60
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Hypertrophic cardiomyopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00034)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)