L18V (p.Leu18Val) variant of RET (P07949)
L18V (p.Leu18Val) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- gnomAD 10-43077310-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.27
- MetaLR 0.93
- MetaSVM 0.69
- CADD 22.80
- PolyPhen-2 0.90
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available