Q2R (p.Gln2Arg) variant of MYPN (Myopalladin)
Q2R (p.Gln2Arg) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q2R (p.Gln2Arg) variant details
- p.Gln2Arg
- rs1016752784
- gnomAD 10-68106182-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 19.80
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available