L101V (p.Leu101Val) variant of TFRC (Transferrin receptor protein 1)
L101V (p.Leu101Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L101V (p.Leu101Val) variant details
- p.Leu101Val
- rs377515204
- ClinGen CA90760792
- ClinVar RCV003864858
- Ensembl rs377515204
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- CADD 8.58
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available