P18T (p.Pro18Thr) variant of COL5A1 (Collagen alpha-1(V) chain)
P18T (p.Pro18Thr) in COL5A1 (Collagen alpha-1(V) 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 0.29 / 1. The record also includes population frequency data and structural context.
P18T (p.Pro18Thr) variant details
- p.Pro18Thr
- TOPMed rs1060502260
- gnomAD rs1060502260
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.19
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.51
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available