T5S (p.Thr5Ser) variant of SMARCA2 (P51531)
T5S (p.Thr5Ser) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T5S (p.Thr5Ser) variant details
- p.Thr5Ser
- gnomAD 9-2029035-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.18
- AlphaMissense 0.12
- MetaLR 0.41
- MetaSVM -0.55
- CADD 18.70
- PolyPhen-2 0.00
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available