P16R (p.Pro16Arg) variant of HMBS (Porphobilinogen deaminase)
P16R (p.Pro16Arg) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P16R (p.Pro16Arg) variant details
- p.Pro16Arg
- gnomAD rs1294868119
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available