T63A (p.Thr63Ala) variant of ITGB4 (Integrin beta-4)
T63A (p.Thr63Ala) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T63A (p.Thr63Ala) variant details
- p.Thr63Ala
- gnomAD 17-75727428-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.40
- CADD 22.00
- PolyPhen-2 0.73
- SIFT 0.52
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available