D120N (p.Asp120Asn) variant of SHTN1 (Shootin-1)
D120N (p.Asp120Asn) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
D120N (p.Asp120Asn) variant details
- p.Asp120Asn
- ExAC rs758572201
- gnomAD rs758572201
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.18
- ESM-1b 0.01
- AlphaMissense 0.13
- MetaLR 0.84
- MetaSVM 0.58
- CADD 24.20
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available