N56H (p.Asn56His) variant of PPP2R5D (Q14738)
N56H (p.Asn56His) in PPP2R5D (Q14738) 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 0.33 / 1. The record also includes structural context.
N56H (p.Asn56His) variant details
- p.Asn56His
- rs1561849418
- ClinGen CA364179151
- ClinVar RCV002587846
- Ensembl rs1561849418
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- AlphaMissense 0.12
- MetaLR 0.05
- MetaSVM -1.08
- PolyPhen-2 0.80
- SIFT 0.12
- MutPred 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available