P3Q (p.Pro3Gln) variant of PSTPIP1 (O43586)
P3Q (p.Pro3Gln) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P3Q (p.Pro3Gln) variant details
- p.Pro3Gln
- gnomAD 15-76995476-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 16.10
- SIFT 0.03
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score 0.0145
- Literature evidence available