M39I (p.Met39Ile) variant of PSTPIP1 (O43586)
M39I (p.Met39Ile) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M39I (p.Met39Ile) variant details
- p.Met39Ile
- gnomAD 15-77018228-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- MetaLR 0.05
- MetaSVM -1.03
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -1.03
- Literature evidence available