K1312N (p.Lys1312Asn) variant of COL2A1 (Collagen alpha-1(II) chain)
K1312N (p.Lys1312Asn) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of MASS syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
K1312N (p.Lys1312Asn) variant details
- p.Lys1312Asn
- rs745788222
- ClinGen CA6534595
- ClinVar RCV001731208
- ExAC rs745788222
- Likely pathogenic
- MASS syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.61
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Likely pathogenic (MASS syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)