P47S (p.Pro47Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
P47S (p.Pro47Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P47S (p.Pro47Ser) variant details
- p.Pro47Ser
- ExAC rs771800420
- gnomAD rs771800420
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.21
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available