S78I (p.Ser78Ile) variant of ABCG5 (Q9H222)
S78I (p.Ser78Ile) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
S78I (p.Ser78Ile) variant details
- p.Ser78Ile
- TOPMed rs1257853786
- gnomAD rs1257853786
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- CADD 24.90
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available