V66L (p.Val66Leu) variant of SHTN1 (Shootin-1)
V66L (p.Val66Leu) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
V66L (p.Val66Leu) variant details
- p.Val66Leu
- ExAC rs759370475
- gnomAD rs759370475
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.78
- MetaSVM 0.31
- CADD 25.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available