L22Q (p.Leu22Gln) variant of RET (P07949)
L22Q (p.Leu22Gln) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L22Q (p.Leu22Gln) variant details
- p.Leu22Gln
- gnomAD 10-43077323-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.47
- MetaLR 0.91
- MetaSVM 0.87
- CADD 23.30
- PolyPhen-2 0.38
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available