P53P (p.Pro53Pro) variant of COL4A5 (Collagen alpha-5(IV) chain)
P53P (p.Pro53Pro) in COL4A5 (Collagen alpha-5(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P53P (p.Pro53Pro) variant details
- p.Pro53Pro
- rs1270497316
- gnomAD X-108559081-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.21
- CADD 10.50
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available