L238R (p.Leu238Arg) variant of SMC1A (Q14683)
L238R (p.Leu238Arg) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
L238R (p.Leu238Arg) variant details
- p.Leu238Arg
- Ensembl rs868916184
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- ESM-1b 1.00
- AlphaMissense 0.66
- Structural context available