P18P (p.Pro18Pro) variant of COL5A1 (Collagen alpha-1(V) chain)
P18P (p.Pro18Pro) in COL5A1 (Collagen alpha-1(V) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P18P (p.Pro18Pro) variant details
- p.Pro18Pro
- gnomAD 9-134642241-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 12.50
- Population evidence available
- Structural context available
- Literature evidence available