Q71K (p.Gln71Lys) variant of USH1C (Harmonin)
Q71K (p.Gln71Lys) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q71K (p.Gln71Lys) variant details
- p.Gln71Lys
- gnomAD rs1193648847
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.32
- CADD 26.70
- PolyPhen-2 0.69
- SIFT 0.03
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.178