P21T (p.Pro21Thr) variant of COL5A1 (Collagen alpha-1(V) chain)
P21T (p.Pro21Thr) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P21T (p.Pro21Thr) variant details
- p.Pro21Thr
- 1000Genomes rs548525119
- ExAC rs548525119
- TOPMed rs548525119
- gnomAD rs548525119
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.22
- CADD 8.70
- PolyPhen-2 0.00
- SIFT 0.43
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available