L25V (p.Leu25Val) variant of TFRC (Transferrin receptor protein 1)
L25V (p.Leu25Val) in TFRC (Transferrin receptor protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L25V (p.Leu25Val) variant details
- p.Leu25Val
- ExAC rs764168903
- TOPMed rs764168903
- gnomAD rs764168903
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.09
- CADD 19.00
- PolyPhen-2 0.42
- SIFT 0.03
- Population evidence available
- Structural context available