M1V (p.Met1Val) variant of USH1C (Harmonin)
M1V (p.Met1Val) 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; Usher syndrome type 1C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes experimental measurements, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1554965967
- ClinGen CA379805399
- ClinVar RCV000669702
- Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 18A; Usher syndrome type 1C
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- MetaLR 0.19
- MetaSVM -0.75
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.96
- ClinVar: Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 18A; Usher syndrom)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- USH1C PDZ domain domainome 1.0: score 0.0947
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)