P7P (p.Pro7Pro) variant of COL4A3 (Collagen alpha-3(IV) chain)
P7P (p.Pro7Pro) in COL4A3 (Collagen alpha-3(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P7P (p.Pro7Pro) variant details
- p.Pro7Pro
- rs530353117
- gnomAD 2-227164747-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.1
- CADD 2.75
- Most common in the HGDP:MBUTI population (allele frequency 0.18)
- Structural context available
- Literature evidence available