D14N (p.Asp14Asn) variant of USH1C (Harmonin)
D14N (p.Asp14Asn) 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.
D14N (p.Asp14Asn) variant details
- p.Asp14Asn
- cosmic curated COSV10452
- TOPMed rs1305058607
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.06
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.51
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.557