P21H (p.Pro21His) variant of SMARCA2 (P51531)
P21H (p.Pro21His) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P21H (p.Pro21His) variant details
- p.Pro21His
- ExAC rs776972919
- gnomAD rs776972919
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.42
- AlphaMissense 0.45
- MetaLR 0.68
- MetaSVM 0.41
- CADD 23.20
- PolyPhen-2 0.51
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available