L29F (p.Leu29Phe) variant of SLC22A6 (Q4U2R8)
L29F (p.Leu29Phe) in SLC22A6 (Q4U2R8) 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 0.24 / 1. The record also includes population frequency data and structural context.
L29F (p.Leu29Phe) variant details
- p.Leu29Phe
- rs1328265782
- NCI-TCGA Cosmic COSV6456
- cosmic curated COSV64560
- gnomAD rs1328265782
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.04
- MetaLR 0.10
- MetaSVM -1.03
- CADD 13.80
- PolyPhen-2 0.10
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available