A162S (p.Ala162Ser) variant of SHTN1 (Shootin-1)
A162S (p.Ala162Ser) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A162S (p.Ala162Ser) variant details
- p.Ala162Ser
- ExAC rs753870238
- gnomAD rs753870238
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.16
- MetaSVM -0.99
- CADD 22.50
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available