V66G (p.Val66Gly) variant of SHTN1 (Shootin-1)
V66G (p.Val66Gly) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
V66G (p.Val66Gly) variant details
- p.Val66Gly
- gnomAD rs1850136297
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.84
- MetaSVM 0.76
- CADD 27.80
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available