V136A (p.Val136Ala) variant of ANKRD1 (Q15327)
V136A (p.Val136Ala) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V136A (p.Val136Ala) variant details
- p.Val136Ala
- rs1208266830
- ClinGen CA377552220
- ClinVar RCV001346089
- ClinVar RCV004995698
- Uncertain significance
- Cardiovascular phenotype; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.35
- CADD 24.80
- PolyPhen-2 0.19
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)