N167Y (p.Asn167Tyr) variant of SHTN1 (Shootin-1)
N167Y (p.Asn167Tyr) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N167Y (p.Asn167Tyr) variant details
- p.Asn167Tyr
- ExAC rs752018764
- gnomAD rs752018764
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.12
- MetaSVM -0.77
- CADD 24.50
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available