A52V (p.Ala52Val) variant of TECTA (Alpha-tectorin)
A52V (p.Ala52Val) in TECTA (Alpha-tectorin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- NCI-TCGA Cosmic COSV5069
- cosmic curated COSV50691
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.24
- MetaLR 0.34
- MetaSVM -0.64
- CADD 20.20
- PolyPhen-2 0.03
- SIFT 0.45
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available