P13T (p.Pro13Thr) variant of SMARCA2 (P51531)
P13T (p.Pro13Thr) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P13T (p.Pro13Thr) variant details
- p.Pro13Thr
- gnomAD 9-2029059-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.36
- AlphaMissense 0.22
- MetaLR 0.59
- MetaSVM 0.24
- CADD 21.30
- PolyPhen-2 0.72
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available