S23N (p.Ser23Asn) variant of PPP2R5D (Q14738)
S23N (p.Ser23Asn) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S23N (p.Ser23Asn) variant details
- p.Ser23Asn
- gnomAD 6-42989651-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.11
- MetaLR 0.04
- MetaSVM -1.15
- CADD 20.00
- PolyPhen-2 0.02
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available