P49A (p.Pro49Ala) variant of KCNJ5 (P48544)
P49A (p.Pro49Ala) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P49A (p.Pro49Ala) variant details
- p.Pro49Ala
- gnomAD 11-128911418-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.51
- MetaLR 0.58
- MetaSVM -0.07
- CADD 16.50
- PolyPhen-2 0.10
- SIFT 0.21
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available