P49S (p.Pro49Ser) variant of KCNJ5 (P48544)
P49S (p.Pro49Ser) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P49S (p.Pro49Ser) variant details
- p.Pro49Ser
- cosmic curated COSV10743
- ExAC rs768356887
- TOPMed rs768356887
- gnomAD rs768356887
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.53
- MetaLR 0.60
- MetaSVM 0.02
- CADD 17.90
- PolyPhen-2 0.10
- SIFT 0.20
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available