P20R (p.Pro20Arg) variant of MMAA (Q8IVH4)
P20R (p.Pro20Arg) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P20R (p.Pro20Arg) variant details
- p.Pro20Arg
- gnomAD 4-145639198-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 15.20
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available