P70L (p.Pro70Leu) variant of COL1A2 (Collagen alpha-2(I) chain)
P70L (p.Pro70Leu) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
P70L (p.Pro70Leu) variant details
- p.Pro70Leu
- NCI-TCGA TCGA novel
- Ensembl rs1791665067
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.59
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available