K9T (p.Lys9Thr) variant of PPP2R5D (Q14738)
K9T (p.Lys9Thr) 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 0.38 / 1. The record also includes structural context.
K9T (p.Lys9Thr) variant details
- p.Lys9Thr
- rs1203581990
- ClinGen CA364172787
- ClinVar RCV002848213
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.38
- MetaLR 0.21
- MetaSVM -0.93
- PolyPhen-2 0.64
- SIFT 0.00
- MutPred 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available