S42N (p.Ser42Asn) variant of SMARCA2 (P51531)
S42N (p.Ser42Asn) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S42N (p.Ser42Asn) variant details
- p.Ser42Asn
- ExAC rs777024299
- gnomAD rs777024299
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.42
- AlphaMissense 0.42
- MetaLR 0.59
- MetaSVM 0.18
- CADD 22.50
- PolyPhen-2 0.56
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available