P15T (p.Pro15Thr) variant of SMARCA2 (P51531)
P15T (p.Pro15Thr) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P15T (p.Pro15Thr) variant details
- p.Pro15Thr
- gnomAD 9-2029065-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.60
- AlphaMissense 0.55
- MetaLR 0.81
- MetaSVM 0.77
- CADD 25.40
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available