P53L (p.Pro53Leu) variant of PPP2R5D (Q14738)
P53L (p.Pro53Leu) 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 0.17 / 1. The record also includes population frequency data and structural context.
P53L (p.Pro53Leu) variant details
- p.Pro53Leu
- rs1421653493
- ClinGen CA364179040
- ClinVar RCV001969257
- TOPMed rs1421653493
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.03
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in HJS1)
- UniProt: Uncertain significance (in HJS1)
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available