P64L (p.Pro64Leu) variant of USH1C (Harmonin)
P64L (p.Pro64Leu) 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 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P64L (p.Pro64Leu) variant details
- p.Pro64Leu
- rs758959670
- ClinGen CA5905143
- ClinVar RCV001866707
- ExAC rs758959670
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.30
- CADD 23.30
- PolyPhen-2 0.26
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.0931