S244N (p.Ser244Asn) variant of SMC1A (Q14683)
S244N (p.Ser244Asn) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S244N (p.Ser244Asn) variant details
- p.Ser244Asn
- gnomAD X-53380707-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 9.63
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available