I151V (p.Ile151Val) variant of SHTN1 (Shootin-1)
I151V (p.Ile151Val) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I151V (p.Ile151Val) variant details
- p.Ile151Val
- ExAC rs780985147
- TOPMed rs780985147
- gnomAD rs780985147
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.12
- ESM-1b 0.39
- AlphaMissense 0.07
- MetaLR 0.10
- MetaSVM -1.00
- CADD 22.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available