L42P (p.Leu42Pro) variant of PSTPIP1 (O43586)
L42P (p.Leu42Pro) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L42P (p.Leu42Pro) variant details
- p.Leu42Pro
- rs1365380083
- gnomAD 15-76995491-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 12.50
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.15
- Literature evidence available