P53S (p.Pro53Ser) variant of ABCG5 (Q9H222)
P53S (p.Pro53Ser) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P53S (p.Pro53Ser) variant details
- p.Pro53Ser
- ESP rs372772883
- ExAC rs372772883
- TOPMed rs372772883
- gnomAD rs372772883
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 22.20
- PolyPhen-2 0.65
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available