S60R (p.Ser60Arg) variant of PPP2R5D (Q14738)
S60R (p.Ser60Arg) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S60R (p.Ser60Arg) variant details
- p.Ser60Arg
- gnomAD 6-43006537-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.14
- CADD 19.40
- PolyPhen-2 0.29
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available