S47N (p.Ser47Asn) variant of SMARCA2 (P51531)
S47N (p.Ser47Asn) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S47N (p.Ser47Asn) variant details
- p.Ser47Asn
- gnomAD 9-2029162-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.41
- AlphaMissense 0.91
- MetaLR 0.81
- MetaSVM 0.59
- CADD 24.80
- PolyPhen-2 0.99
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available