G25C (p.Gly25Cys) variant of PPP2R5D (Q14738)
G25C (p.Gly25Cys) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G25C (p.Gly25Cys) variant details
- p.Gly25Cys
- TOPMed rs1226397734
- gnomAD rs1226397734
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.17
- MetaLR 0.11
- MetaSVM -1.03
- CADD 22.00
- PolyPhen-2 0.45
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available