S14I (p.Ser14Ile) variant of NTRK1 (P04629)
S14I (p.Ser14Ile) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S14I (p.Ser14Ile) variant details
- p.Ser14Ile
- rs1654820812
- gnomAD 1-156842193-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.76
- MetaLR 0.14
- MetaSVM -0.89
- CADD 25.70
- PolyPhen-2 0.92
- SIFT 0.78
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available