E71G (p.Glu71Gly) variant of SPINK5 (Q9NQ38)
E71G (p.Glu71Gly) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E71G (p.Glu71Gly) variant details
- p.Glu71Gly
- gnomAD 5-148072150-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.11
- MetaLR 0.06
- MetaSVM -1.12
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available