S6Y (p.Ser6Tyr) variant of RET (P07949)
S6Y (p.Ser6Tyr) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S6Y (p.Ser6Tyr) variant details
- p.Ser6Tyr
- gnomAD 10-43077275-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.34
- MetaLR 0.89
- MetaSVM 0.66
- CADD 21.70
- PolyPhen-2 0.26
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available