D15E (p.Asp15Glu) variant of PSTPIP1 (O43586)
D15E (p.Asp15Glu) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D15E (p.Asp15Glu) variant details
- p.Asp15Glu
- gnomAD rs1295436726
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- MetaLR 0.04
- MetaSVM -1.09
- CADD 20.90
- PolyPhen-2 0.05
- SIFT 0.37
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.187