N24Y (p.Asn24Tyr) variant of SPINK5 (Q9NQ38)
N24Y (p.Asn24Tyr) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
N24Y (p.Asn24Tyr) variant details
- p.Asn24Tyr
- 1000Genomes rs527779780
- ExAC rs527779780
- gnomAD rs527779780
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.07
- CADD 25.30
- PolyPhen-2 0.12
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available