R30H (p.Arg30His) variant of SIRT7 (Q9NRC8)
R30H (p.Arg30His) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R30H (p.Arg30His) variant details
- p.Arg30His
- Ensembl rs1281094082
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.35
- MetaLR 0.09
- MetaSVM -1.02
- CADD 26.60
- Most common in the REMAINING population (allele frequency 3.6e-05)
- Structural context available