L21R (p.Leu21Arg) variant of RET (P07949)
L21R (p.Leu21Arg) in RET (P07949) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
L21R (p.Leu21Arg) variant details
- p.Leu21Arg
- gnomAD rs1461009997
- Uncertain significance
- Multiple endocrine neoplasia, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.52
- MetaLR 0.95
- MetaSVM 1.08
- CADD 29.30
- PolyPhen-2 0.98
- SIFT 0.04
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 2)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available