M35I (p.Met35Ile) variant of PSTPIP1 (O43586)
M35I (p.Met35Ile) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M35I (p.Met35Ile) variant details
- p.Met35Ile
- gnomAD 15-77018216-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- MetaLR 0.09
- MetaSVM -1.01
- CADD 23.70
- PolyPhen-2 0.64
- SIFT 0.04
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.218
- Literature evidence available