T5A (p.Thr5Ala) variant of SPINK5 (Q9NQ38)
T5A (p.Thr5Ala) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T5A (p.Thr5Ala) variant details
- p.Thr5Ala
- gnomAD 5-148064057-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0883
- REVEL 0.02
- MetaLR 0.11
- MetaSVM -1.02
- CADD 7.46
- PolyPhen-2 0.01
- SIFT 0.33
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available