T11N (p.Thr11Asn) variant of SMARCA4 (P51532)
T11N (p.Thr11Asn) in SMARCA4 (P51532) 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.
T11N (p.Thr11Asn) variant details
- p.Thr11Asn
- gnomAD 19-10984183-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.39
- CADD 24.10
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available