N24H (p.Asn24His) variant of SPINK5 (Q9NQ38)
N24H (p.Asn24His) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
N24H (p.Asn24His) variant details
- p.Asn24His
- gnomAD 5-148065361-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -1.05
- CADD 22.20
- PolyPhen-2 0.12
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available