L5V (p.Leu5Val) variant of PSTPIP1 (O43586)
L5V (p.Leu5Val) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L5V (p.Leu5Val) variant details
- p.Leu5Val
- rs1345924057
- gnomAD 15-76995415-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 15.60
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0346
- Literature evidence available