E10D (p.Glu10Asp) variant of PPP2R5D (Q14738)
E10D (p.Glu10Asp) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E10D (p.Glu10Asp) variant details
- p.Glu10Asp
- Ensembl rs1771107532
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.11
- MetaLR 0.11
- MetaSVM -0.99
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available