P50Q (p.Pro50Gln) variant of COL1A2 (Collagen alpha-2(I) chain)
P50Q (p.Pro50Gln) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P50Q (p.Pro50Gln) variant details
- p.Pro50Gln
- rs377637698
- ClinGen CA4346537
- ClinVar RCV003481850
- ESP rs377637698
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.34
- CADD 23.30
- PolyPhen-2 0.45
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available