A24V (p.Ala24Val) variant of MYL3 (Myosin light chain 3)
A24V (p.Ala24Val) in MYL3 (Myosin light chain 3) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- rs373278317
- ClinGen CA73781973
- ClinVar RCV001222973
- ClinVar RCV002491701
- Uncertain significance
- not provided; Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.23
- CADD 17.30
- PolyPhen-2 0.03
- SIFT 0.21
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Hypertrophic cardiomyopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)