G25A (p.Gly25Ala) variant of PPP2R5D (Q14738)
G25A (p.Gly25Ala) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G25A (p.Gly25Ala) variant details
- p.Gly25Ala
- gnomAD 6-42989657-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.18
- MetaLR 0.06
- MetaSVM -1.05
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.51
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available