D21N (p.Asp21Asn) variant of KCNJ5 (P48544)
D21N (p.Asp21Asn) in KCNJ5 (P48544) 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 0.34 / 1. The record also includes population frequency data and structural context.
D21N (p.Asp21Asn) variant details
- p.Asp21Asn
- NCI-TCGA Cosmic COSV5796
- cosmic curated COSV57965
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.22
- MetaLR 0.51
- MetaSVM -0.23
- CADD 21.20
- PolyPhen-2 0.04
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available