I163V (p.Ile163Val) variant of SHTN1 (Shootin-1)
I163V (p.Ile163Val) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I163V (p.Ile163Val) variant details
- p.Ile163Val
- ExAC rs756583939
- gnomAD rs756583939
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.14
- MetaSVM -1.01
- CADD 22.40
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available