L30Q (p.Leu30Gln) variant of PSTPIP1 (O43586)
L30Q (p.Leu30Gln) in PSTPIP1 (O43586) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L30Q (p.Leu30Gln) variant details
- p.Leu30Gln
- rs1263340623
- gnomAD 15-77018199-CTGGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.577
- CADD 29.50
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.045
- Literature evidence available