S30R (p.Ser30Arg) variant of SMARCA2 (P51531)
S30R (p.Ser30Arg) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S30R (p.Ser30Arg) variant details
- p.Ser30Arg
- gnomAD 9-2029110-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.46
- AlphaMissense 0.97
- MetaLR 0.73
- MetaSVM 0.58
- CADD 24.70
- PolyPhen-2 0.99
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available