N29K (p.Asn29Lys) variant of SMARCE1 (Q969G3)
N29K (p.Asn29Lys) in SMARCE1 (Q969G3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N29K (p.Asn29Lys) variant details
- p.Asn29Lys
- Ensembl rs2144009208
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 19.50
- Population evidence available
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -1.08