A56T (p.Ala56Thr) variant of USH2A (Usherin)
A56T (p.Ala56Thr) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- rs2102788940
- ClinGen CA344904721
- ClinVar RCV001922538
- Ensembl rs2102788940
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.23
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available