T10A (p.Thr10Ala) variant of COL11A1 (Collagen alpha-1(XI) chain)
T10A (p.Thr10Ala) 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 0.27 / 1. The record also includes population frequency data and structural context.
T10A (p.Thr10Ala) variant details
- p.Thr10Ala
- rs1448932139
- ClinGen CA341159833
- ClinVar RCV001894814
- gnomAD rs1448932139
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 24.60
- PolyPhen-2 0.90
- SIFT 0.33
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available