I65L (p.Ile65Leu) variant of COL3A1 (Collagen alpha-1(III) chain)
I65L (p.Ile65Leu) in COL3A1 (Collagen alpha-1(III) chain) is a missense 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.
I65L (p.Ile65Leu) variant details
- p.Ile65Leu
- gnomAD 2-188984873-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.21
- MetaLR 0.27
- MetaSVM -0.73
- CADD 22.20
- PolyPhen-2 0.08
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available