S7L (p.Ser7Leu) variant of SPINK5 (Q9NQ38)
S7L (p.Ser7Leu) 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 and structural context.
S7L (p.Ser7Leu) variant details
- p.Ser7Leu
- gnomAD rs1264539510
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.18
- MetaLR 0.06
- MetaSVM -1.03
- CADD 12.40
- PolyPhen-2 0.07
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available