K15R (p.Lys15Arg) variant of ANK2 (Ankyrin-2)
K15R (p.Lys15Arg) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K15R (p.Lys15Arg) variant details
- p.Lys15Arg
- gnomAD 4-113049772-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.04
- CADD 24.40
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.433
- Literature evidence available