S49N (p.Ser49Asn) variant of SMARCE1 (Q969G3)
S49N (p.Ser49Asn) in SMARCE1 (Q969G3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S49N (p.Ser49Asn) variant details
- p.Ser49Asn
- TOPMed rs2037209126
- gnomAD rs2037209126
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.13
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.343