A16T (p.Ala16Thr) variant of SMARCE1 (Q969G3)
A16T (p.Ala16Thr) in SMARCE1 (Q969G3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- TOPMed rs1410345162
- gnomAD rs1410345162
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.11
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.131