H121L (p.His121Leu) variant of ACVR1 (Activin receptor type-1)
H121L (p.His121Leu) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H121L (p.His121Leu) variant details
- p.His121Leu
- cosmic curated COSV10639
- gnomAD rs1265994310
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.21
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available