V66I (p.Val66Ile) variant of SHTN1 (Shootin-1)
V66I (p.Val66Ile) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
V66I (p.Val66Ile) variant details
- p.Val66Ile
- ExAC rs759370475
- gnomAD rs759370475
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.39
- MetaLR 0.80
- MetaSVM 0.39
- CADD 25.60
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available