P4T (p.Pro4Thr) variant of SMARCA4 (P51532)
P4T (p.Pro4Thr) in SMARCA4 (P51532) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
P4T (p.Pro4Thr) variant details
- p.Pro4Thr
- Ensembl rs2085801503
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.64
- CADD 22.70
- PolyPhen-2 0.33
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available