W12R (p.Trp12Arg) variant of PSTPIP1 (O43586)
W12R (p.Trp12Arg) in PSTPIP1 (O43586) is a missense 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.
W12R (p.Trp12Arg) variant details
- p.Trp12Arg
- rs1388644352
- gnomAD 15-76995505-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 17.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.969
- Literature evidence available