L14Q (p.Leu14Gln) variant of RET (P07949)
L14Q (p.Leu14Gln) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L14Q (p.Leu14Gln) variant details
- p.Leu14Gln
- gnomAD 10-43077299-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.36
- MetaLR 0.83
- MetaSVM 0.21
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available