A10D (p.Ala10Asp) variant of PSTPIP1 (O43586)
A10D (p.Ala10Asp) in PSTPIP1 (O43586) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A10D (p.Ala10Asp) variant details
- p.Ala10Asp
- ExAC rs775041579
- TOPMed rs775041579
- gnomAD rs775041579
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- MetaLR 0.17
- MetaSVM -0.93
- CADD 22.80
- PolyPhen-2 0.05
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.178