A5G (p.Ala5Gly) variant of TFRC (Transferrin receptor protein 1)
A5G (p.Ala5Gly) in TFRC (Transferrin receptor protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A5G (p.Ala5Gly) variant details
- p.Ala5Gly
- cosmic curated COSV64055
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.20
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.05
- Population evidence available
- Structural context available