N24D (p.Asn24Asp) variant of SPINK5 (Q9NQ38)
N24D (p.Asn24Asp) 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.
N24D (p.Asn24Asp) variant details
- p.Asn24Asp
- gnomAD 5-148065361-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.00
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available