A2T (p.Ala2Thr) variant of RET (P07949)
A2T (p.Ala2Thr) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 10-43077262-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.34
- MetaLR 0.89
- MetaSVM 0.72
- CADD 24.40
- PolyPhen-2 0.06
- SIFT 0.29
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available