C13P (p.Cys13Pro) variant of PSTPIP1 (O43586)
C13P (p.Cys13Pro) in PSTPIP1 (O43586) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C13P (p.Cys13Pro) variant details
- p.Cys13Pro
- gnomAD 15-77018141-GTCAC
- Splice Acceptor
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 24.90
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.404
- Literature evidence available