P24R (p.Pro24Arg) variant of NEB (Nebulin)
P24R (p.Pro24Arg) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes variant effect predictions, population frequency data, and experimental measurements.
P24R (p.Pro24Arg) variant details
- p.Pro24Arg
- 1000Genomes rs185496567
- ESP rs185496567
- ExAC rs185496567
- TOPMed rs185496567
- Benign
- Missense
- REVEL 0.18
- AlphaMissense 0.18
- MetaLR 0.04
- MetaSVM -1.07
- CADD 31.00
- PolyPhen-2 1.00
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- NEB SH3 domain domainome 1.0: score -0.164