L18R (p.Leu18Arg) variant of RET (P07949)
L18R (p.Leu18Arg) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L18R (p.Leu18Arg) variant details
- p.Leu18Arg
- gnomAD 10-43077311-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.50
- MetaLR 0.94
- MetaSVM 0.78
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available