I3T (p.Ile3Thr) variant of SPINK5 (Q9NQ38)
I3T (p.Ile3Thr) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
I3T (p.Ile3Thr) variant details
- p.Ile3Thr
- gnomAD rs1317545554
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -1.04
- CADD 8.20
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available