A8V (p.Ala8Val) variant of SMARCE1 (Q969G3)
A8V (p.Ala8Val) in SMARCE1 (Q969G3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- gnomAD rs1280576677
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.32
- CADD 28.80
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.102