T20T (p.Thr20Thr) variant of PSTPIP1 (O43586)
T20T (p.Thr20Thr) in PSTPIP1 (O43586) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T20T (p.Thr20Thr) variant details
- p.Thr20Thr
- rs572721166
- gnomAD 15-77018171-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0948
- CADD 2.00
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.659
- Literature evidence available