S41N (p.Ser41Asn) variant of ABCG8 (Q9H221)
S41N (p.Ser41Asn) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S41N (p.Ser41Asn) variant details
- p.Ser41Asn
- rs772660192
- ClinGen CA346663246
- ClinVar RCV001890454
- ClinVar RCV004041270
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.32
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available