D5V (p.Asp5Val) variant of ANK2 (Ankyrin-2)
D5V (p.Asp5Val) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D5V (p.Asp5Val) variant details
- p.Asp5Val
- gnomAD 4-113049742-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.19
- CADD 29.20
- PolyPhen-2 0.63
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.143
- Literature evidence available