A18D (p.Ala18Asp) variant of PSTPIP1 (O43586)
A18D (p.Ala18Asp) in PSTPIP1 (O43586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- rs1277032061
- ClinGen CA393518164
- ClinVar RCV002292129
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- MetaLR 0.04
- MetaSVM -1.02
- CADD 18.80
- PolyPhen-2 0.12
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.644