A4S (p.Ala4Ser) variant of RET (P07949)
A4S (p.Ala4Ser) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD 10-43077268-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.24
- MetaLR 0.84
- MetaSVM 0.23
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.65
- Population evidence available
- Structural context available
- Literature evidence available