K49I (p.Lys49Ile) variant of SPINK5 (Q9NQ38)
K49I (p.Lys49Ile) 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.
K49I (p.Lys49Ile) variant details
- p.Lys49Ile
- TOPMed rs1490557744
- gnomAD rs1490557744
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -1.02
- CADD 12.70
- PolyPhen-2 0.37
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available