P36Q (p.Pro36Gln) variant of COL1A1 (Collagen alpha-1(I) chain)
P36Q (p.Pro36Gln) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P36Q (p.Pro36Gln) variant details
- p.Pro36Gln
- gnomAD rs1198474319
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.51
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available