L29L (p.Leu29Leu) variant of PSTPIP1 (O43586)
L29L (p.Leu29Leu) in PSTPIP1 (O43586) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L29L (p.Leu29Leu) variant details
- p.Leu29Leu
- gnomAD 15-77018198-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 10.70
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.176
- Literature evidence available