A2S (p.Ala2Ser) variant of ITGB4 (Integrin beta-4)
A2S (p.Ala2Ser) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 17-75724707-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.23
- CADD 25.70
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available