R28P (p.Arg28Pro) variant of SIRT7 (Q9NRC8)
R28P (p.Arg28Pro) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R28P (p.Arg28Pro) variant details
- p.Arg28Pro
- ExAC rs758724029
- TOPMed rs758724029
- gnomAD rs758724029
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.68
- MetaLR 0.07
- MetaSVM -1.09
- CADD 22.40
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available