P29L (p.Pro29Leu) variant of ABCG5 (Q9H222)
P29L (p.Pro29Leu) in ABCG5 (Q9H222) 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 0.36 / 1. The record also includes population frequency data and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- rs1558783068
- ClinGen CA346661875
- ClinVar RCV000731163
- gnomAD rs1558783068
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 5.71
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available