S7R (p.Ser7Arg) variant of SIRT7 (Q9NRC8)
S7R (p.Ser7Arg) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S7R (p.Ser7Arg) variant details
- p.Ser7Arg
- ExAC rs759489989
- gnomAD rs759489989
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.55
- MetaLR 0.05
- MetaSVM -1.10
- CADD 17.15
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available