A48V (p.Ala48Val) variant of PPP2R5D (Q14738)
A48V (p.Ala48Val) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- ExAC rs752822476
- gnomAD rs752822476
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.09
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available