P65Q (p.Pro65Gln) variant of SMARCE1 (Q969G3)
P65Q (p.Pro65Gln) in SMARCE1 (Q969G3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P65Q (p.Pro65Gln) variant details
- p.Pro65Gln
- TOPMed rs1268952356
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.44
- CADD 27.40
- PolyPhen-2 0.96
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.125