V121L (p.Val121Leu) variant of COL5A2 (Collagen alpha-2(V) chain)
V121L (p.Val121Leu) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar 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 0.58 / 1. The record also includes population frequency data and structural context.
V121L (p.Val121Leu) variant details
- p.Val121Leu
- rs754180974
- NCI-TCGA Cosmic COSV6641
- ExAC rs754180974
- gnomAD rs754180974
- Likely benign
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.47
- CADD 21.50
- PolyPhen-2 0.15
- SIFT 0.30
- ClinVar: Likely benign (Ehlers-Danlos syndrome, classic type, 1)
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available