P11A (p.Pro11Ala) variant of PPP2R5D (Q14738)
P11A (p.Pro11Ala) 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 0.29 / 1. The record also includes structural context.
P11A (p.Pro11Ala) variant details
- p.Pro11Ala
- rs1181904491
- ClinGen CA364174586
- ClinVar RCV003577553
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- AlphaMissense 0.06
- MetaLR 0.05
- MetaSVM -1.14
- PolyPhen-2 0.00
- SIFT 0.23
- MutPred 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available