V81I (p.Val81Ile) variant of PPP2R5D (Q14738)
V81I (p.Val81Ile) 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 0.40 / 1. The record also includes population frequency data and structural context.
V81I (p.Val81Ile) variant details
- p.Val81Ile
- Ensembl rs1762094447
- Uncertain significance
- PPP2R5D-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.17
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (PPP2R5D-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available