L30L (p.Leu30Leu) variant of PSTPIP1 (O43586)
L30L (p.Leu30Leu) in PSTPIP1 (O43586) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- rs764392248
- gnomAD 15-76995481-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.497
- CADD 13.90
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.045
- Literature evidence available