N145S (p.Asn145Ser) variant of SMC3 (Q9UQE7)
N145S (p.Asn145Ser) in SMC3 (Q9UQE7) 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 and structural context.
N145S (p.Asn145Ser) variant details
- p.Asn145Ser
- Ensembl rs1861020608
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.56
- ESM-1b 0.29
- AlphaMissense 0.19
- CADD 24.20
- PolyPhen-2 0.91
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available