L13V (p.Leu13Val) variant of RET (P07949)
L13V (p.Leu13Val) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L13V (p.Leu13Val) variant details
- p.Leu13Val
- gnomAD 10-43077295-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.29
- MetaLR 0.92
- MetaSVM 0.62
- CADD 5.01
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available