L27S (p.Leu27Ser) variant of RET (P07949)
L27S (p.Leu27Ser) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L27S (p.Leu27Ser) variant details
- p.Leu27Ser
- gnomAD 10-43100465-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.41
- MetaLR 0.34
- MetaSVM -0.56
- CADD 19.10
- PolyPhen-2 0.07
- SIFT 0.36
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available