L116I (p.Leu116Ile) variant of COL11A1 (Collagen alpha-1(XI) chain)
L116I (p.Leu116Ile) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L116I (p.Leu116Ile) variant details
- p.Leu116Ile
- ExAC rs760427659
- gnomAD rs760427659
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 22.60
- PolyPhen-2 0.13
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available