T78N (p.Thr78Asn) variant of USH1C (Harmonin)
T78N (p.Thr78Asn) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T78N (p.Thr78Asn) variant details
- p.Thr78Asn
- ExAC rs759581780
- gnomAD rs759581780
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.20
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.357