H12N (p.His12Asn) variant of SMARCA2 (P51531)
H12N (p.His12Asn) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
H12N (p.His12Asn) variant details
- p.His12Asn
- gnomAD 9-2029056-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.34
- AlphaMissense 0.39
- MetaLR 0.51
- MetaSVM -0.22
- CADD 23.20
- PolyPhen-2 0.19
- Population evidence available
- Structural context available
- Literature evidence available