D65N (p.Asp65Asn) variant of COL2A1 (Collagen alpha-1(II) chain)
D65N (p.Asp65Asn) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; MASS syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
D65N (p.Asp65Asn) variant details
- p.Asp65Asn
- rs1940156255
- ClinGen CA384526262
- NCI-TCGA Cosmic COSV6153
- ClinVar RCV001046146
- Conflicting interpretations
- not provided; MASS syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.55
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not provided; MASS syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)