M2L (p.Met2Leu) variant of PSTPIP1 (O43586)
M2L (p.Met2Leu) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M2L (p.Met2Leu) variant details
- p.Met2Leu
- gnomAD 15-76995577-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- MetaLR 0.12
- MetaSVM -0.98
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.106
- Literature evidence available