Q49R (p.Gln49Arg) variant of PPP2R5D (Q14738)
Q49R (p.Gln49Arg) 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 0.25 / 1. The record also includes population frequency data and structural context.
Q49R (p.Gln49Arg) variant details
- p.Gln49Arg
- rs370441625
- ClinGen CA3811763
- ClinVar RCV002025622
- ESP rs370441625
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- AlphaMissense 0.13
- MetaLR 0.02
- MetaSVM -1.04
- PolyPhen-2 0.12
- SIFT 0.54
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available