A83V (p.Ala83Val) variant of TLR7 (Toll-like receptor 7)
A83V (p.Ala83Val) in TLR7 (Toll-like receptor 7) is a missense change. Clinical records from ClinVar, EBI, 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 0.14 / 1. The record also includes population frequency data and structural context.
A83V (p.Ala83Val) variant details
- p.Ala83Val
- rs143823510
- ClinGen CA10349909
- NCI-TCGA Cosmic COSV6612
- ClinVar RCV002948283
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.96
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:ORCADIAN population (allele frequency 0.045)
- Structural context available