R12S (p.Arg12Ser) variant of RET (P07949)
R12S (p.Arg12Ser) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R12S (p.Arg12Ser) variant details
- p.Arg12Ser
- gnomAD 10-43077292-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.25
- MetaLR 0.78
- MetaSVM 0.09
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.80
- Population evidence available
- Structural context available
- Literature evidence available