A29S (p.Ala29Ser) variant of KCNJ5 (P48544)
A29S (p.Ala29Ser) in KCNJ5 (P48544) is a missense change. 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.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- gnomAD 11-128911358-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.31
- MetaLR 0.63
- MetaSVM 0.22
- CADD 17.80
- PolyPhen-2 0.33
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available