N119S (p.Asn119Ser) variant of SMC3 (Q9UQE7)
N119S (p.Asn119Ser) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
N119S (p.Asn119Ser) variant details
- p.Asn119Ser
- gnomAD rs1207398077
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 19.10
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available