V13A (p.Val13Ala) variant of USH1C (Harmonin)
V13A (p.Val13Ala) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 18A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- ExAC rs757473472
- gnomAD rs757473472
- Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 18A
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.39
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.08
- ClinVar: Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 18A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.442