P40T (p.Pro40Thr) variant of PPP2R5D (Q14738)
P40T (p.Pro40Thr) 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 0.09 / 1. The record also includes population frequency data and structural context.
P40T (p.Pro40Thr) variant details
- p.Pro40Thr
- rs1286366363
- ClinGen CA364178430
- ClinVar RCV003576831
- gnomAD rs1286366363
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0908
- REVEL 0.03
- CADD 4.42
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available