S44F (p.Ser44Phe) variant of ABCG5 (Q9H222)
S44F (p.Ser44Phe) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S44F (p.Ser44Phe) variant details
- p.Ser44Phe
- cosmic curated COSV53212
- 1000Genomes rs557687545
- ExAC rs557687545
- gnomAD rs557687545
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 27.00
- PolyPhen-2 0.59
- SIFT 0.00
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available