V230E (p.Val230Glu) variant of KCNQ4 (P56696)
V230E (p.Val230Glu) in KCNQ4 (P56696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant nonsyndromic hearing loss 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
V230E (p.Val230Glu) variant details
- p.Val230Glu
- rs797044965
- ClinGen CA347371
- ClinVar RCV000655877
- Ensembl rs797044965
- Pathogenic
- Autosomal dominant nonsyndromic hearing loss 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.97
- MetaLR 0.97
- MetaSVM 1.09
- CADD 32.00
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal dominant nonsyndromic hearing loss 2A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: DFNA2 Nonsyndromic Hearing Loss. (PMID 20301388)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)