S2F (p.Ser2Phe) variant of KCNJ3 (P48549)
S2F (p.Ser2Phe) in KCNJ3 (P48549) 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 0.71 / 1. The record also includes population frequency data and structural context.
S2F (p.Ser2Phe) variant details
- p.Ser2Phe
- NCI-TCGA Cosmic COSV5453
- cosmic curated COSV54536
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.66
- CADD 26.20
- PolyPhen-2 0.64
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available