P47T (p.Pro47Thr) variant of COL1A2 (Collagen alpha-2(I) chain)
P47T (p.Pro47Thr) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P47T (p.Pro47Thr) variant details
- p.Pro47Thr
- rs771800420
- ClinGen CA4346533
- ClinVar RCV002247093
- ExAC rs771800420
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.20
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available