H66H (p.His66His) variant of SMC3 (Q9UQE7)
H66H (p.His66His) in SMC3 (Q9UQE7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
H66H (p.His66His) variant details
- p.His66His
- rs2134715990
- gnomAD 10-110575403-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 15.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available