S228F (p.Ser228Phe) variant of ITPR2 (Q14571)
S228F (p.Ser228Phe) in ITPR2 (Q14571) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
S228F (p.Ser228Phe) variant details
- p.Ser228Phe
- rs868019660
- ClinGen CA234839159
- ClinVar RCV004283117
- Ensembl rs868019660
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.53
- CADD 25.60
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available