T47A (p.Thr47Ala) variant of SMARCE1 (Q969G3)
T47A (p.Thr47Ala) in SMARCE1 (Q969G3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T47A (p.Thr47Ala) variant details
- p.Thr47Ala
- gnomAD rs2037209154
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.07
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.38
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.332