L25F (p.Leu25Phe) variant of PSTPIP1 (O43586)
L25F (p.Leu25Phe) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L25F (p.Leu25Phe) variant details
- p.Leu25Phe
- rs1306187132
- gnomAD 15-76995430-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- CADD 18.20
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0951
- Literature evidence available