P3P (p.Pro3Pro) variant of PSTPIP1 (O43586)
P3P (p.Pro3Pro) in PSTPIP1 (O43586) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P3P (p.Pro3Pro) variant details
- p.Pro3Pro
- gnomAD 15-76994813-T-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.62
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score 0.0145
- Literature evidence available