S23R (p.Ser23Arg) variant of PPP2R5D (Q14738)
S23R (p.Ser23Arg) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S23R (p.Ser23Arg) variant details
- p.Ser23Arg
- gnomAD 6-42989650-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.17
- MetaLR 0.05
- MetaSVM -1.13
- CADD 22.60
- PolyPhen-2 0.14
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available