L74F (p.Leu74Phe) variant of ABCG5 (Q9H222)
L74F (p.Leu74Phe) in ABCG5 (Q9H222) 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 0.22 / 1. The record also includes population frequency data and structural context.
L74F (p.Leu74Phe) variant details
- p.Leu74Phe
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- CADD 8.36
- PolyPhen-2 0.01
- SIFT 0.70
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available