S244L (p.Ser244Leu) variant of SMC1A (Q14683)
S244L (p.Ser244Leu) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S244L (p.Ser244Leu) variant details
- p.Ser244Leu
- Ensembl rs2075719521
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.24
- ESM-1b 0.19
- AlphaMissense 0.07
- MetaLR 0.32
- MetaSVM -0.62
- CADD 19.30
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available