S22N (p.Ser22Asn) variant of PPP2R5D (Q14738)
S22N (p.Ser22Asn) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S22N (p.Ser22Asn) variant details
- p.Ser22Asn
- rs373458153
- ClinGen CA3811723
- ClinVar RCV002026720
- ESP rs373458153
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.11
- MetaLR 0.05
- MetaSVM -1.11
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available