K61N (p.Lys61Asn) variant of SMARCE1 (Q969G3)
K61N (p.Lys61Asn) in SMARCE1 (Q969G3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K61N (p.Lys61Asn) variant details
- p.Lys61Asn
- Ensembl rs12103928
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.49
- CADD 24.20
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.111