N80S (p.Asn80Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
N80S (p.Asn80Ser) 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 0.27 / 1. The record also includes population frequency data and structural context.
N80S (p.Asn80Ser) variant details
- p.Asn80Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 25.00
- PolyPhen-2 0.01
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available