S14L (p.Ser14Leu) variant of KCNJ2 (P63252)
S14L (p.Ser14Leu) in KCNJ2 (P63252) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S14L (p.Ser14Leu) variant details
- p.Ser14Leu
- NCI-TCGA Cosmic COSV5466
- cosmic curated COSV54661
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.18
- MetaLR 0.10
- MetaSVM -1.06
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available