P42T (p.Pro42Thr) variant of PPP2R5D (Q14738)
P42T (p.Pro42Thr) 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 0.13 / 1. The record also includes population frequency data and structural context.
P42T (p.Pro42Thr) variant details
- p.Pro42Thr
- rs766986033
- ClinGen CA3811757
- ClinVar RCV001911201
- ExAC rs766986033
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.04
- CADD 12.50
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available