L5L (p.Leu5Leu) variant of PSTPIP1 (O43586)
L5L (p.Leu5Leu) in PSTPIP1 (O43586) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L5L (p.Leu5Leu) variant details
- p.Leu5Leu
- gnomAD 15-76995415-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.433
- CADD 16.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0346
- Literature evidence available