V71A (p.Val71Ala) variant of MYH6 (Myosin-6)
V71A (p.Val71Ala) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial septal defect 3; Dilated cardiomyopathy 1EE; Sick sinus syndrome 3, susce. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V71A (p.Val71Ala) variant details
- p.Val71Ala
- rs769686237
- ClinGen CA7116223
- ClinVar RCV000685753
- ClinVar RCV001753772
- Uncertain significance
- Atrial septal defect 3; Dilated cardiomyopathy 1EE; Sick sinus syndrome 3, susce
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.64
- CADD 25.30
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Uncertain significance (Atrial septal defect 3; Dilated cardiomyopathy 1EE; Sick sinus s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)