P36L (p.Pro36Leu) variant of COL1A1 (Collagen alpha-1(I) chain)
P36L (p.Pro36Leu) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- gnomAD rs1198474319
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.60
- PolyPhen-2 0.06
- SIFT 0.20
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available