S22F (p.Ser22Phe) variant of ARID1B (Q8NFD5)
S22F (p.Ser22Phe) in ARID1B (Q8NFD5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S22F (p.Ser22Phe) variant details
- p.Ser22Phe
- rs995863053
- ClinGen CA150802690
- cosmic curated COSV10729
- ClinVar RCV002967927
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.30
- MetaLR 0.08
- MetaSVM -1.03
- SIFT 0.00
- MutPred 0.25
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available