S75T (p.Ser75Thr) variant of USH2A (Usherin)
S75T (p.Ser75Thr) in USH2A (Usherin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
S75T (p.Ser75Thr) variant details
- p.Ser75Thr
- ExAC rs768424417
- gnomAD rs768424417
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.02
- CADD 16.40
- PolyPhen-2 0.02
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available