R109K (p.Arg109Lys) variant of COL5A2 (Collagen alpha-2(V) chain)
R109K (p.Arg109Lys) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R109K (p.Arg109Lys) variant details
- p.Arg109Lys
- rs765627984
- ClinGen CA2023145
- ClinVar RCV003039314
- ClinVar RCV005926825
- Likely benign
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.27
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.77
- ClinVar: Likely benign (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-06)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)