S131Y (p.Ser131Tyr) variant of SMC3 (Q9UQE7)
S131Y (p.Ser131Tyr) in SMC3 (Q9UQE7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
S131Y (p.Ser131Tyr) variant details
- p.Ser131Tyr
- rs1163438093
- NCI-TCGA Cosmic COSV6241
- gnomAD rs1163438093
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available