T20A (p.Thr20Ala) variant of PSTPIP1 (O43586)
T20A (p.Thr20Ala) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T20A (p.Thr20Ala) variant details
- p.Thr20Ala
- gnomAD rs2076088348
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- AlphaMissense 0.06
- MetaLR 0.01
- MetaSVM -0.97
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.77
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.659