A27S (p.Ala27Ser) variant of TLR7 (Toll-like receptor 7)
A27S (p.Ala27Ser) in TLR7 (Toll-like receptor 7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A27S (p.Ala27Ser) variant details
- p.Ala27Ser
- rs1299955214
- NCI-TCGA Cosmic COSV1010
- gnomAD rs1299955214
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.06
- MetaLR 0.08
- MetaSVM -1.03
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00067)
- Structural context available