V108L (p.Val108Leu) variant of TFRC (Transferrin receptor protein 1)
V108L (p.Val108Leu) in TFRC (Transferrin receptor protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
V108L (p.Val108Leu) variant details
- p.Val108Leu
- gnomAD rs1247166038
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.06
- CADD 2.34
- PolyPhen-2 0.00
- SIFT 0.51
- Population evidence available
- Structural context available