F47L (p.Phe47Leu) variant of COL11A1 (Collagen alpha-1(XI) chain)
F47L (p.Phe47Leu) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes structural context.
F47L (p.Phe47Leu) variant details
- p.Phe47Leu
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10061
- 1000Genomes rs143159512
- ESP rs143159512
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- ESM-1b 0.00
- AlphaMissense 0.79
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available