I144V (p.Ile144Val) variant of SHTN1 (Shootin-1)
I144V (p.Ile144Val) in SHTN1 (Shootin-1) is a missense change. 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.
I144V (p.Ile144Val) variant details
- p.Ile144Val
- TOPMed rs1210029631
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.23
- MetaSVM -0.81
- CADD 18.50
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available