P30Q (p.Pro30Gln) variant of ACVRL1 (Activin receptor type-1-like)
P30Q (p.Pro30Gln) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P30Q (p.Pro30Gln) variant details
- p.Pro30Gln
- gnomAD 12-51913126-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.15
- CADD 7.80
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available