S70G (p.Ser70Gly) variant of PPP2R5D (Q14738)
S70G (p.Ser70Gly) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S70G (p.Ser70Gly) variant details
- p.Ser70Gly
- gnomAD 6-43006565-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.07
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available