P26R (p.Pro26Arg) variant of ANK2 (Ankyrin-2)
P26R (p.Pro26Arg) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P26R (p.Pro26Arg) variant details
- p.Pro26Arg
- gnomAD 4-113049805-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.15
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.118
- Literature evidence available