P49L (p.Pro49Leu) variant of KCNJ5 (P48544)
P49L (p.Pro49Leu) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P49L (p.Pro49Leu) variant details
- p.Pro49Leu
- gnomAD 11-128911419-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.60
- MetaLR 0.58
- MetaSVM 0.01
- CADD 20.50
- PolyPhen-2 0.10
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available