A52S (p.Ala52Ser) variant of TECTA (Alpha-tectorin)
A52S (p.Ala52Ser) in TECTA (Alpha-tectorin) 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 and structural context.
A52S (p.Ala52Ser) variant details
- p.Ala52Ser
- gnomAD rs1946385730
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.13
- MetaLR 0.07
- MetaSVM -1.03
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available