P133R (p.Pro133Arg) variant of COL5A2 (Collagen alpha-2(V) chain)
P133R (p.Pro133Arg) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P133R (p.Pro133Arg) variant details
- p.Pro133Arg
- ESP rs374225489
- ExAC rs374225489
- TOPMed rs374225489
- gnomAD rs374225489
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.75
- CADD 28.50
- PolyPhen-2 0.71
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00018)
- Structural context available