Q39H (p.Gln39His) variant of PPP2R5D (Q14738)
Q39H (p.Gln39His) 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 0.30 / 1. The record also includes structural context.
Q39H (p.Gln39His) variant details
- p.Gln39His
- rs761463281
- ClinGen CA364178428
- ClinVar RCV001912139
- ExAC rs761463281
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- AlphaMissense 0.13
- MetaLR 0.03
- MetaSVM -1.08
- PolyPhen-2 0.00
- SIFT 0.14
- MutPred 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available