P43P (p.Pro43Pro) variant of MMAA (Q8IVH4)
P43P (p.Pro43Pro) in MMAA (Q8IVH4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P43P (p.Pro43Pro) variant details
- p.Pro43Pro
- rs779779664
- gnomAD 4-145639268-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0824
- CADD 0.25
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available