I17T (p.Ile17Thr) variant of SPINK5 (Q9NQ38)
I17T (p.Ile17Thr) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I17T (p.Ile17Thr) variant details
- p.Ile17Thr
- gnomAD 5-148064094-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.10
- MetaLR 0.07
- MetaSVM -1.05
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available