I118T (p.Ile118Thr) variant of COL11A1 (Collagen alpha-1(XI) chain)
I118T (p.Ile118Thr) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
I118T (p.Ile118Thr) variant details
- p.Ile118Thr
- rs1261502451
- ClinGen CA341167923
- cosmic curated COSV62177
- ClinVar RCV002038778
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.62
- CADD 24.00
- PolyPhen-2 0.14
- SIFT 0.03
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available