P3H (p.Pro3His) variant of PSTPIP1 (O43586)
P3H (p.Pro3His) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P3H (p.Pro3His) variant details
- p.Pro3His
- TOPMed rs1453844121
- gnomAD rs1453844121
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- MetaLR 0.09
- MetaSVM -1.01
- CADD 22.40
- PolyPhen-2 0.17
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score 0.0145