K40R (p.Lys40Arg) variant of KCNJ3 (P48549)
K40R (p.Lys40Arg) in KCNJ3 (P48549) is a missense change. 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.
K40R (p.Lys40Arg) variant details
- p.Lys40Arg
- rs16838016
- cosmic curated COSV54543
- UniProt VAR 049669
- 1000Genomes rs16838016
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.28
- CADD 20.20
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available