P51S (p.Pro51Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
P51S (p.Pro51Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P51S (p.Pro51Ser) variant details
- p.Pro51Ser
- rs945234297
- ClinGen CA236494993
- ClinVar RCV001232295
- TOPMed rs945234297
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.08
- CADD 22.00
- PolyPhen-2 0.10
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available