M1V (p.Met1Val) variant of ANKRD1 (Q15327)
M1V (p.Met1Val) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ANKRD1-related dilated cardiomyopathy. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs772918277
- ClinGen CA5598884
- ClinVar RCV001917693
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- MetaLR 0.24
- MetaSVM -0.56
- PolyPhen-2 0.63
- SIFT 0.00
- MutPred 0.60
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)