S4A (p.Ser4Ala) variant of SHTN1 (Shootin-1)
S4A (p.Ser4Ala) in SHTN1 (Shootin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S4A (p.Ser4Ala) variant details
- p.Ser4Ala
- rs769962385
- ClinGen CA5709579
- ClinVar RCV004360706
- ExAC rs769962385
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.90
- PolyPhen-2 0.16
- SIFT 0.95
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available