S2C (p.Ser2Cys) variant of SMARCA2 (P51531)
S2C (p.Ser2Cys) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S2C (p.Ser2Cys) variant details
- p.Ser2Cys
- gnomAD 9-2029027-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.46
- AlphaMissense 0.42
- MetaLR 0.70
- MetaSVM 0.51
- CADD 28.00
- PolyPhen-2 0.73
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available