L61V (p.Leu61Val) variant of SIRT7 (Q9NRC8)
L61V (p.Leu61Val) in SIRT7 (Q9NRC8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L61V (p.Leu61Val) variant details
- p.Leu61Val
- rs1231732977
- ClinGen CA401530718
- ClinVar RCV004455951
- 1000Genomes rs1231732977
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.03
- MetaSVM -1.07
- CADD 19.54
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.011)
- Structural context available