K40N (p.Lys40Asn) variant of KCNJ3 (P48549)
K40N (p.Lys40Asn) 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 0.37 / 1. The record also includes population frequency data and structural context.
K40N (p.Lys40Asn) variant details
- p.Lys40Asn
- NCI-TCGA Cosmic COSV5453
- NCI-TCGA Cosmic COSV9971
- cosmic curated COSV99716
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.38
- CADD 23.00
- PolyPhen-2 0.69
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs16838016)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available