P3A (p.Pro3Ala) variant of PSTPIP1 (O43586)
P3A (p.Pro3Ala) in PSTPIP1 (O43586) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P3A (p.Pro3Ala) variant details
- p.Pro3Ala
- rs1369094571
- gnomAD 15-76995462-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 16.90
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score 0.0145
- Literature evidence available