N76S (p.Asn76Ser) variant of ABCG2 (Q9UNQ0)
N76S (p.Asn76Ser) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
N76S (p.Asn76Ser) variant details
- p.Asn76Ser
- TOPMed rs1366180487
- gnomAD rs1366180487
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.69
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available