T94A (p.Thr94Ala) variant of COL11A1 (Collagen alpha-1(XI) chain)
T94A (p.Thr94Ala) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.23 / 1. The record also includes population frequency data and structural context.
T94A (p.Thr94Ala) variant details
- p.Thr94Ala
- rs780290869
- ClinGen CA975487
- ClinVar RCV003572905
- ExAC rs780290869
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 8.45
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available