A4T (p.Ala4Thr) variant of SPINK5 (Q9NQ38)
A4T (p.Ala4Thr) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- Ensembl rs1752512067
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.04
- MetaLR 0.10
- MetaSVM -1.02
- CADD 5.02
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available