N44S (p.Asn44Ser) variant of ABCB1 (ATP-dependent translocase ABCB1)
N44S (p.Asn44Ser) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N44S (p.Asn44Ser) variant details
- p.Asn44Ser
- rs1202183
- UniProt VAR 055423
- gnomAD rs1202183
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available