T48A (p.Thr48Ala) variant of VCAN (Versican core protein)
T48A (p.Thr48Ala) in VCAN (Versican core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T48A (p.Thr48Ala) variant details
- p.Thr48Ala
- cosmic curated COSV99426
- ExAC rs752236125
- gnomAD rs752236125
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.22
- CADD 25.30
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available