C13Q (p.Cys13Gln) variant of PSTPIP1 (O43586)
C13Q (p.Cys13Gln) in PSTPIP1 (O43586) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C13Q (p.Cys13Gln) variant details
- p.Cys13Gln
- gnomAD 15-76995426-CTGCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 17.90
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.404
- Literature evidence available