P30S (p.Pro30Ser) variant of CMA1 (Chymase)
P30S (p.Pro30Ser) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- ExAC rs781433490
- gnomAD rs781433490
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.40
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available