A68S (p.Ala68Ser) variant of COL5A2 (Collagen alpha-2(V) chain)
A68S (p.Ala68Ser) in COL5A2 (Collagen alpha-2(V) 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 0.30 / 1. The record also includes population frequency data and structural context.
A68S (p.Ala68Ser) variant details
- p.Ala68Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.12
- CADD 19.10
- PolyPhen-2 0.14
- SIFT 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available