L25P (p.Leu25Pro) variant of ABCG5 (Q9H222)
L25P (p.Leu25Pro) 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 0.15 / 1. The record also includes population frequency data and structural context.
L25P (p.Leu25Pro) variant details
- p.Leu25Pro
- NCI-TCGA TCGA novel
- TOPMed rs1668434997
- gnomAD rs1668434997
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.39
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available