L29I (p.Leu29Ile) variant of PSTPIP1 (O43586)
L29I (p.Leu29Ile) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L29I (p.Leu29Ile) variant details
- p.Leu29Ile
- gnomAD rs2076089195
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- MetaLR 0.10
- MetaSVM -1.01
- CADD 24.40
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.176