K41Q (p.Lys41Gln) variant of SPINK5 (Q9NQ38)
K41Q (p.Lys41Gln) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
K41Q (p.Lys41Gln) variant details
- p.Lys41Gln
- gnomAD 5-148070362-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.09
- MetaLR 0.05
- MetaSVM -1.05
- CADD 21.60
- PolyPhen-2 0.92
- SIFT 0.05
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available