G52V (p.Gly52Val) variant of KCNJ2 (P63252)
G52V (p.Gly52Val) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
G52V (p.Gly52Val) variant details
- p.Gly52Val
- rs1555603894
- ClinGen CA400859990
- NCI-TCGA Cosmic COSV9969
- cosmic curated COSV99696
- Likely pathogenic
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely pathogenic (Cardiovascular phenotype)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available