S30T (p.Ser30Thr) variant of SMARCA2 (P51531)
S30T (p.Ser30Thr) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S30T (p.Ser30Thr) variant details
- p.Ser30Thr
- gnomAD 9-2029111-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.46
- AlphaMissense 0.47
- MetaLR 0.61
- MetaSVM 0.28
- CADD 23.00
- PolyPhen-2 0.94
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available