P23S (p.Pro23Ser) variant of ACVRL1 (Activin receptor type-1-like)
P23S (p.Pro23Ser) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- gnomAD 12-51913104-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.19
- CADD 6.26
- PolyPhen-2 0.01
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available