V70M (p.Val70Met) variant of AGTRAP (Q6RW13)
V70M (p.Val70Met) in AGTRAP (Q6RW13) is a missense change. Clinical records from ClinVar 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 0.29 / 1. The record also includes population frequency data and structural context.
V70M (p.Val70Met) variant details
- p.Val70Met
- 1000Genomes rs373898147
- ESP rs373898147
- ExAC rs373898147
- gnomAD rs373898147
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.22
- ESM-1b 0.80
- AlphaMissense 0.22
- MetaLR 0.17
- MetaSVM -0.81
- CADD 23.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available