T65S (p.Thr65Ser) variant of WAS (P42768)
T65S (p.Thr65Ser) in WAS (P42768) is a missense change. The available record places it in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
T65S (p.Thr65Ser) variant details
- p.Thr65Ser
- rs797044478
- ClinGen CA162681
- ClinVar RCV000122267
- Ensembl rs797044478
- not provided
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.45
- CADD 15.90
- PolyPhen-2 0.06
- SIFT 0.91
- ClinVar: not provided (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available