A12V (p.Ala12Val) variant of MYH6 (Myosin-6)
A12V (p.Ala12Val) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 14; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- rs562487638
- ClinGen CA7116276
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10067
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 14; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.74
- CADD 23.80
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 14; not pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)