I176V (p.Ile176Val) variant of SHTN1 (Shootin-1)
I176V (p.Ile176Val) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
I176V (p.Ile176Val) variant details
- p.Ile176Val
- gnomAD rs1453178184
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.23
- MetaSVM -0.91
- CADD 11.20
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available