N48K (p.Asn48Lys) variant of SMARCE1 (Q969G3)
N48K (p.Asn48Lys) in SMARCE1 (Q969G3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N48K (p.Asn48Lys) variant details
- p.Asn48Lys
- cosmic curated COSV62176
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.17
- CADD 23.20
- PolyPhen-2 0.07
- SIFT 0.18
- Population evidence available
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.248