D27A (p.Asp27Ala) variant of PPP2R5D (Q14738)
D27A (p.Asp27Ala) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D27A (p.Asp27Ala) variant details
- p.Asp27Ala
- gnomAD 6-42989663-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.19
- MetaLR 0.14
- MetaSVM -1.03
- CADD 24.50
- PolyPhen-2 0.97
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available