L48V (p.Leu48Val) variant of USH1C (Harmonin)
L48V (p.Leu48Val) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L48V (p.Leu48Val) variant details
- p.Leu48Val
- rs374829758
- ClinGen CA5905154
- ClinVar RCV002284915
- ESP rs374829758
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.08
- CADD 22.30
- PolyPhen-2 0.24
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.41