R12P (p.Arg12Pro) variant of RET (P07949)
R12P (p.Arg12Pro) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R12P (p.Arg12Pro) variant details
- p.Arg12Pro
- gnomAD 10-43077293-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.52
- MetaLR 0.79
- MetaSVM 0.27
- CADD 22.40
- PolyPhen-2 0.06
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available