A31E (p.Ala31Glu) variant of NTRK1 (P04629)
A31E (p.Ala31Glu) in NTRK1 (P04629) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A31E (p.Ala31Glu) variant details
- p.Ala31Glu
- ExAC rs756222046
- gnomAD rs756222046
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -1.01
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available