L30P (p.Leu30Pro) variant of PSTPIP1 (O43586)
L30P (p.Leu30Pro) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- rs753370729
- gnomAD 15-76995482-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 16.70
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.045
- Literature evidence available