T78I (p.Thr78Ile) variant of USH1C (Harmonin)
T78I (p.Thr78Ile) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T78I (p.Thr78Ile) variant details
- p.Thr78Ile
- cosmic curated COSV50040
- ExAC rs759581780
- gnomAD rs759581780
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.33
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.357