K4T (p.Lys4Thr) variant of USH1C (Harmonin)
K4T (p.Lys4Thr) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K4T (p.Lys4Thr) variant details
- p.Lys4Thr
- TOPMed rs1181091798
- gnomAD rs1181091798
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.15
- CADD 23.30
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.0995