H11N (p.His11Asn) variant of USH1C (Harmonin)
H11N (p.His11Asn) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H11N (p.His11Asn) variant details
- p.His11Asn
- gnomAD rs1322658934
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.08
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.092