G32E (p.Gly32Glu) variant of PSTPIP1 (O43586)
G32E (p.Gly32Glu) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G32E (p.Gly32Glu) variant details
- p.Gly32Glu
- rs557528832
- gnomAD 15-76995464-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 16.60
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.292
- Literature evidence available