T5I (p.Thr5Ile) variant of SPINK5 (Q9NQ38)
T5I (p.Thr5Ile) in SPINK5 (Q9NQ38) 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.
T5I (p.Thr5Ile) variant details
- p.Thr5Ile
- TOPMed rs1752512387
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.10
- MetaLR 0.24
- MetaSVM -0.81
- CADD 13.40
- PolyPhen-2 0.53
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available