S35N (p.Ser35Asn) variant of ABCB1 (ATP-dependent translocase ABCB1)
S35N (p.Ser35Asn) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
S35N (p.Ser35Asn) variant details
- p.Ser35Asn
- TOPMed rs934040996
- gnomAD rs934040996
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- CADD 22.70
- PolyPhen-2 0.10
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available