S53T (p.Ser53Thr) variant of SPINK5 (Q9NQ38)
S53T (p.Ser53Thr) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
S53T (p.Ser53Thr) variant details
- p.Ser53Thr
- Ensembl rs2127189609
- Missense
- Variant Prioritization Score for Impact Estimate 0.0821
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.04
- CADD 1.56
- PolyPhen-2 0.02
- SIFT 0.43
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available