H35Q (p.His35Gln) variant of TFRC (Transferrin receptor protein 1)
H35Q (p.His35Gln) in TFRC (Transferrin receptor protein 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
H35Q (p.His35Gln) variant details
- p.His35Gln
- ExAC rs776032804
- gnomAD rs776032804
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.13
- CADD 3.52
- PolyPhen-2 0.54
- SIFT 0.24
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available