P96A (p.Pro96Ala) variant of COL1A1 (Collagen alpha-1(I) chain)
P96A (p.Pro96Ala) in COL1A1 (Collagen alpha-1(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 0.34 / 1. The record also includes population frequency data and structural context.
P96A (p.Pro96Ala) variant details
- p.Pro96Ala
- NCI-TCGA Cosmic COSV9986
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.19
- ESM-1b 0.32
- AlphaMissense 0.07
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available