M50K (p.Met50Lys) variant of ITGA6 (Integrin alpha-6)
M50K (p.Met50Lys) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
M50K (p.Met50Lys) variant details
- p.Met50Lys
- gnomAD 2-172427937-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 27.80
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available