N437K (p.Asn437Lys) variant of ABCG5 (Q9H222)
N437K (p.Asn437Lys) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Sitosterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
N437K (p.Asn437Lys) variant details
- p.Asn437Lys
- rs575266356
- ClinGen CA1636342
- ClinVar RCV002634369
- UniProt VAR 020781
- Pathogenic
- Sitosterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.54
- CADD 17.60
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic (Sitosterolemia)
- EBI: Pathogenic (in STSL2)
- UniProt: Pathogenic (in STSL2)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. (PMID 11668628)
- Cited in: Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking. (PMID 15054092)