M2V (p.Met2Val) variant of ANK2 (Ankyrin-2)
M2V (p.Met2Val) in ANK2 (Ankyrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M2V (p.Met2Val) variant details
- p.Met2Val
- rs929854524
- ClinGen CA104483597
- ClinVar RCV002343030
- TOPMed rs929854524
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.20
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score 0.0557