G245R (p.Gly245Arg) variant of KCNQ4 (P56696)
G245R (p.Gly245Arg) in KCNQ4 (P56696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant nonsyndromic hearing loss 2A. The record also includes variant effect predictions and structural context.
G245R (p.Gly245Arg) variant details
- p.Gly245Arg
- cosmic curated COSV10741
- Ensembl rs1648206756
- Likely pathogenic
- Autosomal dominant nonsyndromic hearing loss 2A
- Missense
- MetaLR 0.53
- MetaSVM 0.22
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal dominant nonsyndromic hearing loss 2A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available