I72V (p.Ile72Val) variant of PPP2R5D (Q14738)
I72V (p.Ile72Val) 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.
I72V (p.Ile72Val) variant details
- p.Ile72Val
- rs1193111263
- ClinGen CA364179925
- ClinVar RCV002033164
- TOPMed rs1193111263
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.08
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available