D9N (p.Asp9Asn) variant of PSTPIP1 (O43586)
D9N (p.Asp9Asn) in PSTPIP1 (O43586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoinflammatory syndrome. 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.
D9N (p.Asp9Asn) variant details
- p.Asp9Asn
- rs2075560223
- ClinGen CA393516168
- ClinVar RCV002264494
- Ensembl rs2075560223
- Uncertain significance
- Autoinflammatory syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- MetaLR 0.09
- MetaSVM -1.06
- CADD 24.90
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Uncertain significance (Autoinflammatory syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.41