P95T (p.Pro95Thr) variant of USH1C (Harmonin)
P95T (p.Pro95Thr) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P95T (p.Pro95Thr) variant details
- p.Pro95Thr
- gnomAD rs1415557754
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.17
- CADD 26.20
- PolyPhen-2 0.80
- SIFT 0.04
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available