K112N (p.Lys112Asn) variant of ACVR1 (Activin receptor type-1)
K112N (p.Lys112Asn) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
K112N (p.Lys112Asn) variant details
- p.Lys112Asn
- rs138808563
- ClinGen CA1919174
- ClinVar RCV002785433
- ESP rs138808563
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.17
- CADD 5.32
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available