Q79L (p.Gln79Leu) variant of PPP2R5D (Q14738)
Q79L (p.Gln79Leu) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PPP2R5D-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q79L (p.Gln79Leu) variant details
- p.Gln79Leu
- rs763375514
- ClinGen CA138249420
- ClinVar RCV004552424
- ExAC rs763375514
- Uncertain significance
- PPP2R5D-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.09
- AlphaMissense 0.41
- MetaLR 0.36
- MetaSVM -0.21
- CADD 22.80
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (PPP2R5D-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available