S6F (p.Ser6Phe) variant of RET (P07949)
S6F (p.Ser6Phe) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S6F (p.Ser6Phe) variant details
- p.Ser6Phe
- gnomAD 10-43077275-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.37
- MetaLR 0.90
- MetaSVM 0.73
- CADD 22.30
- PolyPhen-2 0.19
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available