A33V (p.Ala33Val) variant of NTRK1 (P04629)
A33V (p.Ala33Val) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- gnomAD 1-156861032-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -1.02
- CADD 17.30
- PolyPhen-2 0.02
- SIFT 0.20
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available