M35L (p.Met35Leu) variant of PSTPIP1 (O43586)
M35L (p.Met35Leu) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M35L (p.Met35Leu) variant details
- p.Met35Leu
- gnomAD rs1390777922
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- MetaLR 0.06
- MetaSVM -1.10
- CADD 24.00
- PolyPhen-2 0.63
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.218