P38L (p.Pro38Leu) variant of PPP2R5D (Q14738)
P38L (p.Pro38Leu) 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 0.28 / 1. The record also includes population frequency data and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- rs200268619
- ClinGen CA3811750
- ClinVar RCV001883919
- 1000Genomes rs200268619
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.12
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available