L26P (p.Leu26Pro) variant of PSTPIP1 (O43586)
L26P (p.Leu26Pro) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L26P (p.Leu26Pro) variant details
- p.Leu26Pro
- gnomAD 15-77018188-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- MetaLR 0.11
- MetaSVM -0.99
- CADD 27.50
- PolyPhen-2 0.74
- SIFT 0.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.178
- Literature evidence available