F60L (p.Phe60Leu) variant of COL11A1 (Collagen alpha-1(XI) chain)
F60L (p.Phe60Leu) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
F60L (p.Phe60Leu) variant details
- p.Phe60Leu
- gnomAD rs1434633749
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.16
- ESM-1b 1.00
- AlphaMissense 0.63
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available