A9V (p.Ala9Val) variant of RET (P07949)
A9V (p.Ala9Val) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- gnomAD 10-43077284-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.17
- MetaLR 0.84
- MetaSVM 0.41
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available