D15N (p.Asp15Asn) variant of PSTPIP1 (O43586)
D15N (p.Asp15Asn) in PSTPIP1 (O43586) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes experimental measurements and structural context.
D15N (p.Asp15Asn) variant details
- p.Asp15Asn
- rs934905433
- Ensembl rs934905433
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- AlphaMissense 0.33
- MetaLR 0.13
- MetaSVM -0.88
- PolyPhen-2 0.73
- SIFT 0.04
- EVE 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.187