P46L (p.Pro46Leu) variant of PPP2R5D (Q14738)
P46L (p.Pro46Leu) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar 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 0.26 / 1. The record also includes population frequency data and structural context.
P46L (p.Pro46Leu) variant details
- p.Pro46Leu
- gnomAD rs1762088356
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.05
- CADD 19.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available