V29L (p.Val29Leu) variant of TFRC (Transferrin receptor protein 1)
V29L (p.Val29Leu) in TFRC (Transferrin receptor protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V29L (p.Val29Leu) variant details
- p.Val29Leu
- ESP rs146744160
- gnomAD rs146744160
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.03
- CADD 18.40
- PolyPhen-2 0.12
- SIFT 0.18
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available