P122R (p.Pro122Arg) variant of SIRT7 (Q9NRC8)
P122R (p.Pro122Arg) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P122R (p.Pro122Arg) variant details
- p.Pro122Arg
- ExAC rs771256424
- gnomAD rs771256424
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.65
- MetaLR 0.15
- MetaSVM -0.82
- CADD 31.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available