D46E (p.Asp46Glu) variant of COL11A1 (Collagen alpha-1(XI) chain)
D46E (p.Asp46Glu) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Fibrochondrogenesis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- rs11164663
- ClinGen CA975544
- ClinVar RCV000250002
- ClinVar RCV000275406
- Benign/Likely benign
- not specified; not provided; Fibrochondrogenesis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.11
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign/Likely benign (not specified; not provided; Fibrochondrogenesis 1)
- EBI: Benign (in dbSNP:rs11164663)
- UniProt: Benign (in dbSNP:rs11164663)
- Most common in the HGDP:PAPUANHIGHLANDS population (allele frequency 0.5)
- Structural context available
- Cited in: Stickler Syndrome. (PMID 20301479)