A131V (p.Ala131Val) variant of SHTN1 (Shootin-1)
A131V (p.Ala131Val) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A131V (p.Ala131Val) variant details
- p.Ala131Val
- ExAC rs773467883
- gnomAD rs773467883
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.04
- CADD 14.80
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available