K67T (p.Lys67Thr) variant of COL1A1 (Collagen alpha-1(I) chain)
K67T (p.Lys67Thr) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
K67T (p.Lys67Thr) variant details
- p.Lys67Thr
- ExAC rs758395597
- TOPMed rs758395597
- gnomAD rs758395597
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available