A110V (p.Ala110Val) variant of MYH6 (Myosin-6)
A110V (p.Ala110Val) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 14; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A110V (p.Ala110Val) variant details
- p.Ala110Val
- rs149454728
- ClinGen CA7116207
- ClinVar RCV001047864
- ClinVar RCV002320272
- Uncertain significance
- Hypertrophic cardiomyopathy 14; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.50
- CADD 22.20
- PolyPhen-2 0.09
- SIFT 0.05
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 14; not provided; Cardiovascular phe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)