G102S (p.Gly102Ser) variant of COL5A2 (Collagen alpha-2(V) chain)
G102S (p.Gly102Ser) 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 0.16 / 1. The record also includes population frequency data and structural context.
G102S (p.Gly102Ser) variant details
- p.Gly102Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.11
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.53
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available