V49M (p.Val49Met) variant of TLR7 (Toll-like receptor 7)
V49M (p.Val49Met) in TLR7 (Toll-like receptor 7) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
V49M (p.Val49Met) variant details
- p.Val49Met
- ESP rs141847327
- ExAC rs141847327
- TOPMed rs141847327
- gnomAD rs141847327
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.42
- MetaLR 0.42
- MetaSVM -0.07
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available