R62Q (p.Arg62Gln) variant of SMC1A (Q14683)
R62Q (p.Arg62Gln) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
R62Q (p.Arg62Gln) variant details
- p.Arg62Gln
- rs2146606711
- ClinGen CA413132707
- cosmic curated COSV10439
- ClinVar RCV001755214
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- ESM-1b 0.87
- AlphaMissense 0.36
- MetaLR 0.14
- MetaSVM -1.00
- PolyPhen-2 0.01
- SIFT 0.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available