A61V (p.Ala61Val) variant of MYH6 (Myosin-6)
A61V (p.Ala61Val) 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 1; Atrial septal defect 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A61V (p.Ala61Val) variant details
- p.Ala61Val
- rs730880148
- ClinGen CA346474
- ClinVar RCV000157335
- ClinVar RCV001850184
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 1; Atrial septal defect 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.13
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 1; Atrial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)